NPHP4 variants are associated with pleiotropic heart malformations.

ABSTRACT:

Rationale

Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs.

Objective

To identify genetic mutations causing cardiac laterality defects.

Methods and results

We performed a genome-wide linkage analysis in patients with cardiac laterality defects from a consanguineous family. The patients had combinations of defects that included dextrocardia, transposition of great arteries, double-outlet right ventricle, atrioventricular septal defects, and caval vein abnormalities. Sequencing of positional candidate genes identified mutations in NPHP4. We performed mutation analysi

SUBMITTER: French VM 

PROVIDER: S-EPMC3916111 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature